The phenotypic variability of variant Turner syndrome is wide, ranging from characteristic clinical features to those that are hardly distinguishable from the general population. A 4-year-old girl presented with multiple brownish macules and patches on the trunk and upper extremities as well as axillary freckles. Exome sequencing and chromosomal microarray testing revealed a microdeletion at Xp22.33p22.11 leading to a diagnosis of Turner syndrome. Here we describe an unusual case of variant Turner syndrome with multiple café-au-lait spots.

Background: Green nail syndrome (GNS) is characterized by a greenish discoloration of the nail with accompanying nail apparatus disorders, such as onycholysis or paronychia. To date, data on the clinical characteristics of GNS are limited, especially in Korea. Objective: This study aimed to investigate the clinical characteristics of GNS. Methods: We retrospectively reviewed the medical records and clinical photographs of 78 patients with 91 GNS lesions diagnosed at the Pusan National University Hospitals (Busan and Yangsan) from 2009 to 2021. Results: Among 78 patients, 47 (60.3%) were female and 31 male (39.7%), with a mean age of 53.1 years (23∼82 years). This study included 56 fingernail (61.5%) and 35 toenail lesions (38.5%). Thumbnails and great toenails were the most common site, with 62 lesions (68.1%). Most patients presented predisposing conditions, such as frequent exposure to wet conditions (55.1%), immunosuppressive conditions (26.9%), and trauma history (29.5%). The most common colors, shapes, and eccentricities of GNS were blackish-green (31.9%), reverse triangle (53.8%), and distal eccentricity (42.9%), respectively. The GNS was accompanied by various nail diseases that mostly (80.2%) preceded the syndrome, and onycholysis was the most common (83.5%). Based on the involvement of the nail surface or subsurface, GNS can be divided into the superficial (15.4%), subungual (73.6%), and mixed (11.0%) subtypes, each of which shows different clinical features, such as multiplicity, color, shape, and eccentricity. Conclusion This is the largest-scale study showing the clinical characteristics of GNS and can be helpful for dermatologists who usually and primarily treat GNS.

PURPOSE: Obtaining brain tissue is critical to definite diagnosis and to furthering understanding of neurodegenerative diseases. The present authors have maintained the National Neuropathology Reference and Diagnostic Laboratories for Dementia in South Korea since 2016. We have built a nationwide brain bank network and are collecting brain tissues from patients with neurodegenerative diseases. We are aiming to facilitate analyses of clinic-pathological and image-pathological correlations of neurodegenerative disease and to broaden understanding thereof. MATERIALS AND METHODS: We recruited participants through two routes: from memory clinics and the community. As a baseline evaluation, clinical interviews, a neurological examination, laboratory tests, neuropsychological tests, and MRI were undertaken. Some patients also underwent amyloid PET. RESULTS: We recruited 105 participants, 70 from clinics and 35 from the community. Among them, 11 died and were autopsied. The clinical diagnoses of the autopsied patients included four with Alzheimer's disease (AD), two with subcortical vascular dementia, two with non-fluent variant primary progressive aphasia, one with leukoencephalopathy, one with frontotemporal dementia (FTD), and one with Creutzfeldt-Jakob disease (CJD). Five patients underwent amyloid PET: two with AD, one with mixed dementia, one with FTD, and one with CJD. CONCLUSION: The clinical and neuropathological information to be obtained from this cohort in the future will provide a deeper understanding of the neuropathological mechanisms of cognitive impairment in Asia, especially Korea.
Alzheimer Disease ; Amyloid ; Aphasia, Primary Progressive ; Asia ; Brain* ; Cognition Disorders ; Cohort Studies ; Creutzfeldt-Jakob Syndrome ; Dementia ; Dementia, Vascular ; Diagnosis ; Frontotemporal Dementia ; Humans ; Korea* ; Leukoencephalopathies ; Magnetic Resonance Imaging ; Memory ; Neurodegenerative Diseases ; Neurologic Examination ; Neuropathology ; Neuropsychological Tests

Paget's disease of bone (PDB) is a disorder featuring high-level bone turnover associated with the presence of disorganized and immature bone tissue with excessive levels of fibrosis. The risk of deformity is very high. The etiology of PDB is not well understood, but includes both genetic and environmental factors among which is bone trauma. Hypercalcemia can occur as a complication of PDB in patients who are immobilized and dehydrated. However, to date, no case of severe hypercalcemia with metastatic calcifications in multiple organs has been reported in any PDB patient. The drugs of choice for treatment of PDB are bisphosphonates. These drugs effectively suppress bone turnover. Patients with extensive PDB may require higher doses of bisphosphonates, and acquired resistance to a particular bisphosphonate may be overcome by use an alternative drug. Here, we report a case of suspicion of PDB. The patient presented with hypercalcemia and metastatic calcifications and his condition improved dramatically after treatment with zoledronic acid.
Bone and Bones ; Congenital Abnormalities ; Diphosphonates ; Fibrosis ; Humans ; Hypercalcemia* ; Imidazoles ; Osteitis Deformans ; Wounds and Injuries

Paget's disease of bone (PDB) is a disorder featuring high-level bone turnover associated with the presence of disorganized and immature bone tissue with excessive levels of fibrosis. The risk of deformity is very high. The etiology of PDB is not well understood, but includes both genetic and environmental factors among which is bone trauma. Hypercalcemia can occur as a complication of PDB in patients who are immobilized and dehydrated. However, to date, no case of severe hypercalcemia with metastatic calcifications in multiple organs has been reported in any PDB patient. The drugs of choice for treatment of PDB are bisphosphonates. These drugs effectively suppress bone turnover. Patients with extensive PDB may require higher doses of bisphosphonates, and acquired resistance to a particular bisphosphonate may be overcome by use an alternative drug. Here, we report a case of suspicion of PDB. The patient presented with hypercalcemia and metastatic calcifications and his condition improved dramatically after treatment with zoledronic acid.
Bone and Bones ; Congenital Abnormalities ; Diphosphonates ; Fibrosis ; Humans ; Hypercalcemia* ; Imidazoles ; Osteitis Deformans ; Wounds and Injuries

OBJECTIVE: This study sought to investigate independent predictive factors for subclinical atherosclerosis in Korean patients with rheumatoid arthritis (RA). METHODS: We used high-resolution B-mode ultrasonography to measure the carotid artery intima-media thickness (IMT) and carotid plaque in 367 patients with RA. Detailed information on the demographic characteristics, cardiovascular (CV) risk factors, and RA disease characteristics were collected on all subjects. The relationship of the carotid artery IMT and carotid plaque to relevant clinical and laboratory variables were examined. RESULTS: Old age and male sex had the most significant association with increased IMT and presence of plaque than other factors. Erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), and mKHAQ (Korean version of modified health assessment questionnaire) were significantly associated with both increased IMT and presence of plaque after univariate analysis adjusting for age and sex. A multivariable logistic regression analysis revealed that ESR and TJC68 were independent factors associated with the presence of plaque (p<0.001 and p=0.019, respectively). There was a significant linear correlation between the number of plaques and ESR (p<0.001 and R2=0.07). CONCLUSION: Our results indicated that markers of systemic inflammation contributed significantly to subclinical atherosclerosis in patients with RA. We emphasize the need for aggressive control of RA disease activity in patients who persistently demonstrate highly elevated ESR levels.
Arthritis, Rheumatoid ; Atherosclerosis ; Blood Sedimentation ; C-Reactive Protein ; Cardiovascular Diseases ; Carotid Arteries ; Cohort Studies ; Humans ; Inflammation ; Logistic Models ; Male ; Risk Factors